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Concept information

Preferred term

Renal Aminoacidurias  

Type

  • Topical Descriptor

Narrower concepts

Entry terms

  • Aminoaciduria, Renal

Note

  • coordinate IM with specific amino acid /urine (IM)

Scope note

  • A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved.

History note

  • 2007 (1963)

In other languages

URI

http://www.yso.fi/onto/mesh/D000608

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